中国汉族人芳香二烷基磷酸酯酶基因启动子多态性与冠心病的关系  

Relationship between a polymorphism in the promoter region of Chinese Hans paraoxonase gene and coronary heart diseases

作　　者：霍麟[1] 周新[1] 郑芳[1] 叶光明[1] 贺小玲[1] 刘芳[1] 李霞[1] 

机构地区：[1]武汉大学中南医院检验科,武汉430071

出　　处：《基础医学与临床》2002年第6期534-537,共4页Basic and Clinical Medicine

基　　金：湖北省攻关项目 (2 0 0 0 2P12 0 2 )

摘　　要：观察芳香二烷基磷酸酯酶 (paraoxonase ,PON1)基因启动子区 10 8(C/T)多态性与人类冠心病 (CHD)及其血脂水平的关系。采用多聚酶链反应 限制性片段长度多态性的分析方法 (PCR RFLP)检测CHD患者PON1基因启动子区 10 8位点的多态性。结果显示PON1启动子区 10 8位点存在多态性 ,出现三种基因型 :TT、TC和CC。各等位基因的分布在正常对照组及CHD组之间存在显著性差异 ,且CC基因型的分布在两组间也有显著差异 (P <0 0 5 )。正常对照组与CHD组间各基因型血浆ApoAⅠ水平无显著性差异 ;CHD组CC纯合子的血浆高密度脂蛋白胆固醇(HDL C)水平明显低于对照组 (P <0 0 5 ) ,而两组间TT纯合子和TC杂合子的HDL C水平无统计学差异。To investigate the association between the polymorphism in the promoter region in human paraoxonase(PON1) gene and the levels of serum lipid in patients with coronary heart disease (CHD). The genotype and allele frequency of paraoxonase gene 108C/T polymorphism were assayed by polymerase chain reaction(PCR) restriction fragment length polymorphism (RFLP).The results demonstrated a polymorphism in the promoter region of human paraoxonase gene. Three genotypes were identified as TT, TC and CC respectively. The frequency of CC genotype in CHD group was significantly lower than that in the control( P <0.05). There was no significant difference in the plasm ApoAI level between CHD group and control; The level of high density lipoprotein cholesterol in CC homozygotes was significantly lower in CHD group in comparison with control( P <0.05), but there was no significant difference in TT homozygotes and TC heterozygotes between two groups. The results suggested that polymorphism in promoter region of paraoxonase gene may potentially associated with CHD.

关 键 词：芳香二烷基磷酸酯酶 启动子 冠心病 动脉粥样硬化 多态性 

分 类 号：R541.4[医药卫生—心血管疾病]